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Article

RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy.

Epileptic disorders : international epilepsy journal with videotape - 1 Mar 2016

Aeby Alec, Prigogine Cynthia, Vilain Catheline, Malfilatre Geneviève, Jaeken Jaak, Lederer Damien, Van Bogaert Patrick

Abstract excerpt

RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this condition. [Published with video sequences online].

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Source

Identifiers

PMID: 26892341
DOI: 10.1684/epd.2016.0802

Genes

RFT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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